Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
0.010 GeneticVariation phenotype BEFREE This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1 mutation. 29425110 2018